Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families

We have performed an extensive analysis of TP53 in 474 French families suggestive of Li–Fraumeni syndrome (LFS), including 232 families fulfilling the Chompret criteria. We identified a germline alteration of TP53 in 82 families (17%), in 67/232 of the families fulfilling the Chompret criteria (29%)...

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Veröffentlicht in:	Journal of medical genetics 2008-08, Vol.45 (8), p.535-538
Hauptverfasser:	Bougeard, G, Sesboüé, R, Baert-Desurmont, S, Vasseur, S, Martin, C, Tinat, J, Brugières, L, Chompret, A, Paillerets, B Bressac-de, Stoppa-Lyonnet, D, Bonaïti-Pellié, C, Frébourg, T
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Biological and medical sciences Bone cancer Brain cancer Breast cancer Cell cycle Female France Fundamental and applied biological sciences. Psychology Gene Deletion General aspects. Genetic counseling Genes, p53 Genetic Predisposition to Disease Genetics Genetics of eukaryotes. Biological and molecular evolution Human genetics Humans Leukemia Li-Fraumeni Syndrome Li-Fraumeni Syndrome - genetics Life Sciences Male Medical genetics Medical sciences Molecular and cellular biology Multiple tumors. Solid tumors. Tumors in childhood (general aspects) Mutation Mutation, Missense Neoplasms Neoplasms - genetics Pedigree Sarcoma Tumors
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